ClinVar for Gene (Select 130058582) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315197	NM_015161.3(ARL6IP1):c.30C>A (p.Asn10Lys)	ARL6IP1, LOC130058582 (N10K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2796380	NM_015161.3(ARL6IP1):c.36+20C>T	ARL6IP1, LOC130058582	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2529373	NM_015161.3(ARL6IP1):c.25A>T (p.Thr9Ser)	ARL6IP1, LOC130058582 (T9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2156733	NM_015161.3(ARL6IP1):c.36+11G>C	ARL6IP1, LOC130058582	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 1922923	NM_015161.3(ARL6IP1):c.36+19T>A	ARL6IP1, LOC130058582	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 1918023	NM_015161.3(ARL6IP1):c.17A>G (p.Asn6Ser)	ARL6IP1, LOC130058582 (N6S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 1580614	NM_015161.3(ARL6IP1):c.6G>A (p.Ala2=)	ARL6IP1, LOC130058582	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 1572852	NM_015161.3(ARL6IP1):c.36+13dup	ARL6IP1, LOC130058582	Duplication (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 704124	NM_015161.3(ARL6IP1):c.29A>G (p.Asn10Ser)	ARL6IP1, LOC130058582 (N10S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GBenign
Select item 584319	NC_000016.9:g.(?_18804554)_(18812808_?)dup	ARL6IP1, LOC130058581 +1 more	Duplication	Hereditary spastic paraplegia 61	GUncertain significance
Select item 583366	NM_015161.3(ARL6IP1):c.26C>G (p.Thr9Ser)	ARL6IP1, LOC130058582 (T9S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61 +1 more	GUncertain significance
Select item 153402	GRCh38/hg38 16p12.3(chr16:18759489-19293402)x3	ARL6IP1, CLEC19A +24 more	Copy number gain	See cases	GUncertain significance
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic